Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A33

SLC25A33

30 papers

RefSeq Summary

SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008].

Pfam Domains

Mito_carraa 7–122UCSCMitochondrial carrier protein
Mito_carraa 125–218UCSCMitochondrial carrier protein
Mito_carraa 229–320UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 33

HGNC Alias Symbols

MGC4399; BMSC-MCP; PNC1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
2 papers
NM_032315.3
p.A275V
c.824C>T
1 paper
NM_032315.3
p.L12Q
c.35T>A
1 paper
NM_032315.3
p.T29I
c.86C>T
1 paper
NM_032315.3
p.T48A
c.142A>G
1 paper
NM_032315.3
p.Y50C
c.149A>G
1 paper
NM_032315.3
p.E85delFs
c.254delA
1 paper
NM_032315.3
p.G86E
c.257G>A
1 paper
NM_032315.3
p.G93A
c.278G>C
1 paper
NM_032315.3
p.R105Splc
c.314+7A>T
1 paper
NM_032315.3
p.N120delFs
c.359delA
1 paper
NM_032315.3
p.N120fs
c.358_359fs
1 paper
NM_032315.3
p.F123Fs
c.368delinsTAFs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."